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- W2023731637 abstract "Abstract A family of extremely severe diseases, known as the glycosphingolipidoses, is caused by inherited defects in the lysosomal degradation pathway for glycosphingolipids (GSLs). In most of these disorders, GSLs accumulate in lysosomes, causing neurodegeneration and a shortened life span. No effective treatment currently exists for most of these diseases, and their mechanisms of pathogenesis are only beginning to be understood. This review will discuss new findings for a representative group of these disorders—the GM2 gangliosidoses—including the development of a new approach for treatment that targets the synthesis pathway of GSLs to retard their cellular accumulation." @default.
- W2023731637 created "2016-06-24" @default.
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- W2023731637 date "2001-12-01" @default.
- W2023731637 modified "2023-09-24" @default.
- W2023731637 title "The GM2 gangliosidoses: pathophysiology to therapy" @default.
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- W2023731637 doi "https://doi.org/10.1016/s0531-5131(01)00431-9" @default.
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